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Updated: Sep 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia

Xiaosen Ma1, Qianqian Pang1, Qi Zhang2

  • 1Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, People's Republic of China.

Calcified Tissue International
|July 13, 2022
PubMed

Keywords:
PHEXSplice siteSynonymous variantXLH

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